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Aliases for TMUB1 Gene

Aliases for TMUB1 Gene

  • Transmembrane And Ubiquitin Like Domain Containing 1 2 3 5
  • Dendritic Cell-Derived Ubiquitin-Like Protein 3 4
  • Hepatocyte Odd Protein Shuttling Protein 3 4
  • Ubiquitin-Like Protein SB144 3 4
  • C7orf21 3 4
  • DULP 3 4
  • Transmembrane And Ubiquitin-Like Domain-Containing Protein 1 3
  • Transmembrane And Ubiquitin-Like Domain Containing 1 2
  • Chromosome 7 Open Reading Frame 21 2
  • Ubiquitin-Like Protein DULP 3
  • SB144 3
  • HOPS 4

External Ids for TMUB1 Gene

Previous HGNC Symbols for TMUB1 Gene

  • C7orf21

Previous GeneCards Identifiers for TMUB1 Gene

  • GC07M150409
  • GC07M150778
  • GC07M144590

Summaries for TMUB1 Gene

GeneCards Summary for TMUB1 Gene

TMUB1 (Transmembrane And Ubiquitin Like Domain Containing 1) is a Protein Coding gene. An important paralog of this gene is TMUB2.

UniProtKB/Swiss-Prot for TMUB1 Gene

  • Involved in sterol-regulated ubiquitination and degradation of HMG-CoA reductase HMGCR (PubMed:21343306). Involved in positive regulation of AMPA-selective glutamate receptor GRIA2 recycling to the cell surface (By similarity). Acts as negative regulator of hepatocyte growth during regeneration (By similarity).

  • iHOPS: May contribute to the regulation of translation during cell-cycle progression. May contribute to the regulation of cell proliferation (By similarity). May be involved in centrosome assembly. Modulates stabilization and nucleolar localization of tumor suppressor CDKN2A and enhances association between CDKN2A and NPM1 (By similarity).

Additional gene information for TMUB1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMUB1 Gene

Genomics for TMUB1 Gene

Regulatory Elements for TMUB1 Gene

Enhancers for TMUB1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H150959 2.1 VISTA Ensembl ENCODE dbSUPER 10.7 +120.8 120795 7.2 HDGF PKNOX1 ARNT YBX1 ZNF766 ZNF143 REST SMARCB1 ZNF592 MEF2D AOC1 NUB1 ATG9B ABCB8 ENSG00000243433 TMUB1 AGAP3 KCNH2 LOC105375567
GH07H151007 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.2 +72.4 72420 7.7 HDGF PKNOX1 ARNT ZFP64 ARID4B DMAP1 SLC30A9 ZNF766 CBX5 ZNF143 ENSG00000244151 NOS3 NUB1 KCNH2 ASIC3 CDK5 SLC4A2 FASTK TMUB1 AGAP3
GH07H151038 1.6 Ensembl ENCODE dbSUPER 11.8 +44.2 44235 2.6 HDGF PKNOX1 ARNT SIN3A ZNF766 FOS SP3 REST SMARCB1 ZNF592 FASTK ENSG00000244151 TMUB1 AGAP3 ABCB8 ASIC3 ENSG00000243433
GH07H150968 1.6 VISTA Ensembl ENCODE dbSUPER 10.7 +112.7 112720 4.7 HDAC1 HDGF BMI1 ZNF766 EGR1 RCOR1 ATF7 EGR2 SMARCA5 CEBPB AOC1 ATG9B ENSG00000243433 ABCB8 SLC4A2 TMUB1 AGAP3 ENSG00000244151 FASTK KCNH2
GH07H151017 1.5 Ensembl ENCODE dbSUPER 11.3 +65.2 65172 2 HDGF PKNOX1 ATF1 ARNT ARID4B DMAP1 ZNF2 ZBTB7B GLIS2 ZNF143 ABCB8 NOS3 KCNH2 ASIC3 SLC4A2 CDK5 AGAP3 TMUB1 ENSG00000244151 FASTK
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMUB1 on UCSC Golden Path with GeneCards custom track

Promoters for TMUB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000329088 246 1001 HDGF PKNOX1 ARNT ARID4B SIN3A YBX1 ZNF2 ZNF207 ZNF143 SP3

Genomic Locations for TMUB1 Gene

Genomic Locations for TMUB1 Gene
chr7:151,081,080-151,083,546
(GRCh38/hg38)
Size:
2,467 bases
Orientation:
Minus strand
chr7:150,778,167-150,780,633
(GRCh37/hg19)

Genomic View for TMUB1 Gene

Genes around TMUB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMUB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMUB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMUB1 Gene

Proteins for TMUB1 Gene

  • Protein details for TMUB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BVT8-TMUB1_HUMAN
    Recommended name:
    Transmembrane and ubiquitin-like domain-containing protein 1
    Protein Accession:
    Q9BVT8
    Secondary Accessions:
    • D3DX06
    • Q53AQ2

    Protein attributes for TMUB1 Gene

    Size:
    246 amino acids
    Molecular mass:
    26261 Da
    Quaternary structure:
    • Interacts with EEF1A1, GRIA2, GRIP1, CAMLG, TUBG1 (By similarity). Interacts with NPM1 and CDKN2A; TMUB1 can enhance interaction between NPM1 and CDKN2A and is proposed to bridge the proteins; proposed to be mediated by iHOPS (By similarity). Interacts with ERLIN2 and AMFR; TMUB1 promotes the interaction of ERLIN2 with AMFR (PubMed:21343306).

neXtProt entry for TMUB1 Gene

Post-translational modifications for TMUB1 Gene

  • iHOPS: Processed by regulated intramembrane proteolysis (RIP)in the N-terminus to release iHOPS from membranes (By similarity).
  • Ubiquitination at posLast=108108 and posLast=129129
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TMUB1 Gene

Domains & Families for TMUB1 Gene

Gene Families for TMUB1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Predicted secreted proteins
  • Transporters

Protein Domains for TMUB1 Gene

Suggested Antigen Peptide Sequences for TMUB1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TMUB1: view

No data available for UniProtKB/Swiss-Prot for TMUB1 Gene

Function for TMUB1 Gene

Molecular function for TMUB1 Gene

UniProtKB/Swiss-Prot Function:
Involved in sterol-regulated ubiquitination and degradation of HMG-CoA reductase HMGCR (PubMed:21343306). Involved in positive regulation of AMPA-selective glutamate receptor GRIA2 recycling to the cell surface (By similarity). Acts as negative regulator of hepatocyte growth during regeneration (By similarity).
UniProtKB/Swiss-Prot Function:
iHOPS: May contribute to the regulation of translation during cell-cycle progression. May contribute to the regulation of cell proliferation (By similarity). May be involved in centrosome assembly. Modulates stabilization and nucleolar localization of tumor suppressor CDKN2A and enhances association between CDKN2A and NPM1 (By similarity).

Phenotypes From GWAS Catalog for TMUB1 Gene

Gene Ontology (GO) - Molecular Function for TMUB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21343306
genes like me logo Genes that share ontologies with TMUB1: view
genes like me logo Genes that share phenotypes with TMUB1: view

Animal Models for TMUB1 Gene

MGI Knock Outs for TMUB1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TMUB1 Gene

Localization for TMUB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMUB1 Gene

Membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane. Recycling endosome. Cytoplasm. Nucleus. Nucleus, nucleolus.
iHOPS: Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Nucleus, nucleolus. Nucleus. Note=iHOPS is proposed to be the shuttling form across different cellular compartments. XPO1-dependent exported from the nucleus in dividing cells. Predominantly nuclear during growth arrest. {ECO:0000250 UniProtKB:Q9JMG3}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TMUB1 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
cytoskeleton 3
endosome 3
extracellular 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TMUB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IEA --
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IEA --
genes like me logo Genes that share ontologies with TMUB1: view

Pathways & Interactions for TMUB1 Gene

SuperPathways for TMUB1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMUB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030433 ER-associated ubiquitin-dependent protein catabolic process IMP 21343306
genes like me logo Genes that share ontologies with TMUB1: view

No data available for Pathways by source and SIGNOR curated interactions for TMUB1 Gene

Drugs & Compounds for TMUB1 Gene

No Compound Related Data Available

Transcripts for TMUB1 Gene

Unigene Clusters for TMUB1 Gene

Transmembrane and ubiquitin-like domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMUB1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c ^ 7a · 7b · 7c
SP1: - - - - - - - -
SP2: - - - - - - -
SP3: - - - - - -
SP4: - - - - -
SP5: - -
SP6: -
SP7: - -
SP8:

Relevant External Links for TMUB1 Gene

GeneLoc Exon Structure for
TMUB1
ECgene alternative splicing isoforms for
TMUB1

Expression for TMUB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMUB1 Gene

Protein differential expression in normal tissues from HIPED for TMUB1 Gene

This gene is overexpressed in Liver (8.4), Bone (8.0), Testis (6.6), and Fetal testis (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TMUB1 Gene



Protein tissue co-expression partners for TMUB1 Gene

NURSA nuclear receptor signaling pathways regulating expression of TMUB1 Gene:

TMUB1

SOURCE GeneReport for Unigene cluster for TMUB1 Gene:

Hs.726215

mRNA Expression by UniProt/SwissProt for TMUB1 Gene:

Q9BVT8-TMUB1_HUMAN
Tissue specificity: Ubiquitously expressed with highest levels in mammary and thyroid glands, bone marrow and spleen; limited expression in cardiac, pancreatic and ovarian tissues.

Evidence on tissue expression from TISSUES for TMUB1 Gene

  • Kidney(4.2)
  • Lymph node(4.2)
  • Spleen(4.2)
  • Blood(4.1)
  • Nervous system(2.4)
genes like me logo Genes that share expression patterns with TMUB1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMUB1 Gene

Orthologs for TMUB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TMUB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMUB1 33 34
  • 100 (n)
dog
(Canis familiaris)
Mammalia TMUB1 33 34
  • 91.46 (n)
cow
(Bos Taurus)
Mammalia TMUB1 33 34
  • 90.38 (n)
mouse
(Mus musculus)
Mammalia Tmub1 33 16 34
  • 87.48 (n)
rat
(Rattus norvegicus)
Mammalia Tmub1 33
  • 87.35 (n)
oppossum
(Monodelphis domestica)
Mammalia TMUB1 34
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMUB1 33 34
  • 69.93 (n)
lizard
(Anolis carolinensis)
Reptilia TMUB1 34
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.11760 33
zebrafish
(Danio rerio)
Actinopterygii tmub1 33 34
  • 57.41 (n)
wufa98b10 33
worm
(Caenorhabditis elegans)
Secernentea B0303.4 34
  • 8 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5389 34
  • 22 (a)
OneToMany
Species where no ortholog for TMUB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TMUB1 Gene

ENSEMBL:
Gene Tree for TMUB1 (if available)
TreeFam:
Gene Tree for TMUB1 (if available)

Paralogs for TMUB1 Gene

Paralogs for TMUB1 Gene

(1) SIMAP similar genes for TMUB1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with TMUB1: view

Variants for TMUB1 Gene

Sequence variations from dbSNP and Humsavar for TMUB1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000693573 -- 151,080,811(+) AGATA(A/G)CCGCC intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1001320920 -- 151,085,532(+) TGCGG(C/T)CTCTG upstream-variant-2KB
rs1001512726 -- 151,080,781(+) ACCGA(A/G)TCCGC intron-variant, utr-variant-5-prime
rs1002326513 -- 151,084,183(+) TAAAA(A/T)GTGTA upstream-variant-2KB
rs1002778273 -- 151,083,886(+) TAATT(A/C)TTCAG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for TMUB1 Gene

Variant ID Type Subtype PubMed ID
nsv951648 CNV deletion 24416366
nsv831188 CNV loss 17160897
nsv6004 CNV insertion 18451855
nsv465215 CNV loss 19166990
nsv1151906 OTHER inversion 26484159
nsv1067934 OTHER inversion 25765185
dgv6756n100 CNV gain 25217958
dgv3695n106 OTHER inversion 24896259
dgv11724n54 CNV loss 21841781

Variation tolerance for TMUB1 Gene

Residual Variation Intolerance Score: 54% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.91; 18.93% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMUB1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMUB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMUB1 Gene

Disorders for TMUB1 Gene

Relevant External Links for TMUB1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMUB1

No disorders were found for TMUB1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TMUB1 Gene

Publications for TMUB1 Gene

  1. Different functions of HOPS isoforms in the cell: HOPS shuttling isoform is determined by RIP cleavage system. (PMID: 24240191) Castelli M … Servillo G (Cell cycle (Georgetown, Tex.) 2014) 3 4 60
  2. Membrane-associated ubiquitin ligase complex containing gp78 mediates sterol-accelerated degradation of 3-hydroxy-3-methylglutaryl-coenzyme A reductase. (PMID: 21343306) Jo Y … DeBose-Boyd RA (The Journal of biological chemistry 2011) 3 4 60
  3. Cloning and characterization of DULP, a novel ubiquitin-like molecule from human dendritic cells. (PMID: 19254477) Liu GY … Yu YZ (Cellular & molecular immunology 2009) 3 4 60
  4. HOPS: a novel cAMP-dependent shuttling protein involved in protein synthesis regulation. (PMID: 16014383) Della Fazia MA … Servillo G (Journal of cell science 2005) 3 4 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for TMUB1 Gene

  • Addgene plasmids for TMUB1

Sources for TMUB1 Gene

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